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Greig头多指(趾)综合征

Greig cephalopolysyndactyly syndrome.

作者信息

Duncan P A, Klein R M, Wilmot P L, Shapiro L R

出版信息

Am J Dis Child. 1979 Aug;133(8):818-21. doi: 10.1001/archpedi.1979.02130080058010.

DOI:10.1001/archpedi.1979.02130080058010
PMID:223435
Abstract

Based on the family presented and five others previously described, it can be concluded that the Grieg cephalopolysyndactyly syndrome is a fully penetrant autosomal dominant disease consisting of four variably expressed malformations: postaxial polydactyly (type B), preaxial polydactyly, syndactyly, and minor craniofacial abnormalities. This entity can be differentiated from other craniofacial-digital syndromes because of the absence of mental retardation, craniosynostosis, and brachydactyly.

摘要

根据所呈现的这个家系以及之前描述的其他五个家系,可以得出结论:格里格头多指并指综合征是一种完全显性的常染色体显性疾病,由四种表现程度各异的畸形组成:轴后多指(B型)、轴前多指、并指以及轻微的颅面异常。由于不存在智力发育迟缓、颅缝早闭和短指畸形,该病症可与其他颅面-指骨综合征相鉴别。

相似文献

1
Greig cephalopolysyndactyly syndrome.Greig头多指(趾)综合征
Am J Dis Child. 1979 Aug;133(8):818-21. doi: 10.1001/archpedi.1979.02130080058010.
2
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.格里格头多指(趾)综合征:一家系报告及文献复习
Am J Med Genet. 1985 Sep;22(1):59-68. doi: 10.1002/ajmg.1320220106.
3
A Turkish family with Greig cephalopolysyndactyly syndrome.一个患有Greig头多指(趾)综合征的土耳其家庭。
Turk J Pediatr. 1999 Apr-Jun;41(2):259-65.
4
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature.一个大家庭中的Greig头多指(趾)综合征:临床体征与文献描述的比较
Clin Dysmorphol. 1994 Jan;3(1):21-30.
5
[Greig's syndrome. Neonatal radiologic manifestations].[格雷格综合征。新生儿放射学表现]
J Radiol. 1984 Mar;65(3):187-9.
6
A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.三代人中出现的多指并指畸形和三节拇指综合征。
Clin Genet. 1974;6(1):51-9. doi: 10.1111/j.1399-0004.1974.tb00630.x.
7
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome.一名患有Greig头多指(趾)综合征的患者出现纤维性骨病变和多种牙齿异常。
Oral Surg Oral Med Oral Pathol. 1988 Oct;66(4):475-9. doi: 10.1016/0030-4220(88)90272-1.
8
A newborn infant with craniofacial dysmorphism and polysyndactyly (Greig's syndrome).一名患有颅面畸形和多指(趾)畸形(Greig综合征)的新生儿。
Acta Paediatr Scand. 1981 Mar;70(2):275-7. doi: 10.1111/j.1651-2227.1981.tb05557.x.
9
The Greig cephalopolysyndactyly syndrome in a Canadian family.一个加拿大家庭中的Greig头多指(趾)综合征。
Am J Med Genet. 1982 Nov;13(3):269-76. doi: 10.1002/ajmg.1320130307.
10
A new craniodigital syndrome with mental retardation.一种伴有智力发育迟缓的新型颅指综合征。
J Pediatr. 1971 Apr;78(4):658-63. doi: 10.1016/s0022-3476(71)80470-5.

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Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.格雷格头多指(趾)综合征中的自闭症症状:一例家族病例报告。
J Med Case Rep. 2019 Apr 23;13(1):100. doi: 10.1186/s13256-019-2043-6.
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Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.两例具有非综合征表型的 Greig 头面多肢体综合征的印度家系。
Eur J Pediatr. 2013 Aug;172(8):1131-5. doi: 10.1007/s00431-013-1938-2. Epub 2013 Jan 19.
6
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.Greig头多指(趾)畸形患者的手足畸形谱。
J Child Orthop. 2007 Jul;1(2):143-50. doi: 10.1007/s11832-007-0022-8. Epub 2007 May 10.
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The Greig cephalopolysyndactyly syndrome.格雷格头多指(趾)综合征
Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10.
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What you can learn from one gene: GLI3.你能从一个基因中学到什么:GLI3。
J Med Genet. 2006 Jun;43(6):465-9. doi: 10.1136/jmg.2004.029181.
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Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?长管状骨弯曲和轴前多指(趾)畸形是梅克尔综合征的体征吗?
Hum Genet. 1983;65(2):125-33. doi: 10.1007/BF00286648.